Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population

Human Genetics

Volumn 132, Issue 6, 2013, Pages 649-656

  Gao, Yong ^a   He, Yisha ^a   Xu, Jing ^a   Xu, Lin ^b   Du, Jiangbo ^a   Zhu, Chen ^a   Gu, Haiyong ^c   Ma, Hongxia ^a   Hu, Zhibin ^a   Jin, Guangfu ^a   Chen, Xiaofei ^a   Shen, Hongbing ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b JIANGSU CANCER HOSPITAL   (China)

^c JIANGSU UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE; ALCOHOL DEHYDROGENASE 1B; ALCOHOL DEHYDROGENASE 1C; ALDEHYDE DEHYDROGENASE ISOENZYME 2; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CANCER RISK; CASE CONTROL STUDY; CHINESE; CHROMOSOME 12Q; CHROMOSOME 12Q24; CHROMOSOME 4Q; CHROMOSOME 4Q21; CHROMOSOME 4Q23; CONTROLLED STUDY; ESOPHAGEAL SQUAMOUS CELL CARCINOMA; FEMALE; GENE DOSAGE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CARCINOMA, SQUAMOUS CELL; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 4; ESOPHAGEAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 84878239367     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1276-5     Document Type: Article

References (38)

1. Abnet CC, Freedman ND, Hu N, Wang Z, Yu K, Shu XO, Yuan JM, Zheng W, Dawsey SM, Dong LM, Lee MP, Ding T, Qiao YL, Gao YT, Koh WP, Xiang YB, Tang ZZ, Fan JH, Wang C, Wheeler W, Gail MH, Yeager M, Yuenger J, Hutchinson A, Jacobs KB, Giffen CA, Burdett L, Fraumeni JF Jr, Tucker MA, Chow WH, Goldstein AM, Chanock SJ, Taylor PR (2010) A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Nat Genet 42:764-767
2. Agarwal DP (2001) Genetic polymorphisms of alcohol metabolizing enzymes. Pathol Biol (Paris) 49:703-709
3. Asakage T, Yokoyama A, Haneda T, Yamazaki M, Muto M, Yokoyama T, Kato H, Igaki H, Tsujinaka T, Kumagai Y, Yokoyama M, Omori T, Watanabe H (2007) Genetic polymorphisms of alcohol and aldehyde dehydrogenases, and drinking, smoking and diet in Japanese men with oral and pharyngeal squamous cell carcinoma. Carcinogenesis 28:865-874
4. Chang JS, Straif K, Guha N (2012) The role of alcohol dehydrogenase genes in head and neck cancers: a systematic review and meta-analysis of ADH1B and ADH1C. Mutagenesis 27:275-286
5. Cui R, Kamatani Y, Takahashi A, Usami M, Hosono N, Kawaguchi T, Tsunoda T, Kamatani N, Kubo M, Nakamura Y, Matsuda K (2009) Functional variants in ADH1B and ALDH2 coupled with alcohol a smoking synergistically enhance esophageal cancer risk. Gastroenterology 137:1768-1775
6. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM (2010) Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 127:2893-2917. doi: 10.1002/ijc.25516
7. Gu H, Ding G, Zhang W, Liu C, Chen Y, Chen S, Jiang P (2012) Replication study of PLCE1 and C20orf54 polymorphism and risk of esophageal cancer in a Chinese population. Mol Biol Rep 39:9105-9111
8. Hamajima N, Takezaki T, Tajima K (2002) Allele frequencies of 25 polymorphisms pertaining to cancer risk for Japanese, Koreans and Chinese. Asian Pac J Cancer Prev 3:197-206
9. Hashibe M, McKay JD, Curado MP, Oliveira JC, Koifman S, Koifman R, Zaridze D, Shangina O, Wünsch-Filho V, Eluf-Neto J, Levi JE, Matos E, Lagiou P, Lagiou A, Benhamou S, Bouchardy C, Szeszenia-Dabrowska N, Menezes A, Dall'Agnol MM, Merletti F, Richiardi L, Fernandez L, Lence J, Talamini R, Barzan L, Mates D, Mates IN, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Canova C, Holcátová I, Agudo A, Castellsagué X, Lowry R, Janout V, Kollarova H, Conway DI, McKinney PA, Znaor A, Fabianova E, Bencko V, Lissowska J, Chabrier A, Hung RJ, Gaborieau V, Boffetta P, Brennan P (2008) Multiple ADH genes are associated with upper aerodigestive cancers. Nat Genet 40:707-709
10. Higgins JP, Thompson SG (2002) Quantifying heterogeneity in a meta-analysis. Stat Med 21:1539-1558
11. International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-1320
12. Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D (2011) Global cancer statistics. CA Cancer J Clin 61:69-90
13. Kamangar F, Chow WH, Abnet CC, Dawsey SM (2009) Environmental causes of esophageal cancer. Gastroenterol Clin North Am 38:27-57
14. Li H, Mukherjee N, Soundararajan U, Tarnok Z, Barta C, Khaliq S, Mohyuddin A, Kajuna SL, Mehdi SQ, Kidd JR, Kidd KK (2007) Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia. Am J Hum Genet 81:842-846
15. Li H, Cho K, Kidd JR, Kidd KK (2009) Genetic landscape of Eurasia and ''admixture'' in Uyghurs. Am J Hum Genet 85:934-937
16. Li D, Zhao H, Gelernter J (2012) Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians. Hum Genet 131:725-737. doi: 10.1007/s00439-011-1116-4
17. 's esophagus. Semin Cancer Biol 15:474-483
18. Manolio TA (2010) Genomewide association studies and assessment of the risk of disease. N Engl J Med 363:166-176
19. Marini F, Wood RD (2002) A human DNA helicase homologous to the DNA cross-link sensitivity protein Mus308. J Biol Chem 277:8716-8723
20. Matsuo K, Hamajima N, Shinoda M, Hatooka S, Inoue M, Takezaki T, Tajima K (2001) Gene-environment interaction between an aldehyde dehydrogenase-2(ALDH2) polymorphism and alcohol consumption for the risk of esophageal cancer. Carcinogenesis 22:913-916
21. Matsuo K, Rossi M, Negri E, Oze I, Hosono S, Ito H, Watanabe M, Yatabe Y, Hasegawa Y, Tanaka H, Tajima K, La Vecchia C (2012) Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese. Eur J Cancer Prev 21:193-198
22. McKay JD, Truong T, Gaborieau V, Chabrier A, Chuang SC, Byrnes G, Zaridze D, Shangina O, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Holcatova I, Janout V, Foretova L, Lagiou P, Trichopoulos D, Benhamou S, Bouchardy C, Ahrens W, Merletti F, Richiardi L, Talamini R, Barzan L, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Canova C, Agudo A, Castellsagué X, Lowry R, Conway DI, McKinney PA, Healy CM, Toner ME, Znaor A, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Neto JE, Garrote LF, Boccia S, Cadoni G, Arzani D, Olshan AF, Weissler MC, Funkhouser WK, Luo J, Lubiński J, Trubicka J, Lener M, Oszutowska D, Schwartz SM, Chen C, Fish S, Doody DR, Muscat JE, Lazarus P, Gallagher CJ, Chang SC, Zhang ZF, Wei Q, Sturgis EM, Wang LE, Franceschi S, Herrero R, Kelsey KT, McClean MD, Marsit CJ, Nelson HH, Romkes M, Buch S, Nukui T, Zhong S, Lacko M, Manni JJ, Peters WH, Hung RJ, McLaughlin J, Vatten L, Njølstad I, Goodman GE, Field JK, Liloglou T, Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, González CA, Quirós JR, Martínez C, Navarro C, Ardanaz E, Larrañaga N, Khaw KT, Key T, Bueno-de-Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjønneland A, Kumle M, Riboli E, Välk K, Vooder T, Metspalu A, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Blanché H, Gut IG, Galan P, Heath S, Hashibe M, Hayes RB, Boffetta P, Lathrop M, Brennan P (2011) A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet 7:e1001333
23. Muramatsu T, Wang ZC, Fang YR, Hu KB, Yan H, Yamada K, Higuchi S, Harada S, Kono H (1995) Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai. Hum Genet 96:151-154
24. Osier MV, Pakstis AJ, Soodyall H, Comas D, Goldman D, Odunsi A, Okonofua F, Parnas J, Schulz LO, Bertranpetit J, Bonne-Tamir B, Lu RB, Kidd JR, Kidd KK (2002) A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am J Hum Genet 71:84-99
25. Oze I, Matsuo K, Hosono S, Ito H, Kawase T, Watanabe M, Suzuki T, Hatooka S, Yatabe Y, Hasegawa Y, Shinoda M, Tajima K, Tanaka H (2010) Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population. Cancer Sci 101:1875-1880
26. Shi Y, Hu Z, Wu C, Dai J, Li H, Dong J, Wang M, Miao X, Zhou Y, Lu F, Zhang H, Hu L, Jiang Y, Li Z, Chu M, Ma H, Chen J, Jin G, Tan W, Wu T, Zhang Z, Lin D, Shen H (2011) A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1. Nat Genet 43:1215-1218
27. Solomon PR, Selvam GS, Shanmugam G (2008) Polymorphism in ADH and MTHFR genes in oral squamous cell carcinoma of Indians. Oral Dis 14:633-639
28. Soucek P, Susova S, Mohelnikova-Duchonova B, Gromadzinska J, Moraviec-Sztandera A, Vodicka P, Vodickova L (2010) Polymorphisms in metabolizing enzymes and the risk of head and neck squamous cell carcinoma in the Slavic population of the central Europe. Neoplasma 57:415-421
29. Stadler ZK, Thom P, Robson ME, Weitzel JN, Kauff ND, Hurley KE, Devlin V, Gold B, Klein RJ, Offit K (2010) Genome-wide association studies of cancer. J Clin Oncol 28:4255-4267
30. Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, Elledge SJ (2007) Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. Science 316:1194-1198
31. Wang LD, Zhou FY, Li XM, Sun LD, Song X, Jin Y, Li JM, Kong GQ, Qi H, Cui J, Zhang LQ, Yang JZ, Li JL, Li XC, Ren JL, Liu ZC, Gao WJ, Yuan L, Wei W, Zhang YR, Wang WP, Sheyhidin I, Li F, Chen BP, Ren SW, Liu B, Li D, Ku JW, Fan ZM, Zhou SL, Guo ZG, Zhao XK, Liu N, Ai YH, Shen FF, Cui WY, Song S, Guo T, Huang J, Yuan C, Huang J, Wu Y, Yue WB, Feng CW, Li HL, Wang Y, Tian JY, Lu Y, Yuan Y, Zhu WL, Liu M, Fu WJ, Yang X, Wang HJ, Han SL, Chen J, Han M, Wang HY, Zhang P, Li XM, Dong JC, Xing GL, Wang R, Guo M, Chang ZW, Liu HL, Guo L, Yuan ZQ, Liu H, Lu Q, Yang LQ, Zhu FG, Yang XF, Feng XS, Wang Z, Li Y, Gao SG, Qige Q, Bai LT, Yang WJ, Lei GY, Shen ZY, Chen LQ, Li EM, Xu LY, Wu ZY, Cao WK, Wang JP, Bao ZQ, Chen JL, Ding GC, Zhuang X, Zhou YF, Zheng HF, Zhang Z, Zuo XB, Dong ZM, Fan DM, He X, Wang J, Zhou Q, Zhang QX, Jiao XY, Lian SY, Ji AF, Lu XM, Wang JS, Chang FB, Lu CD, Chen ZG, Miao JJ, Fan ZL, Lin RB, Liu TJ, Wei JC, Kong QP, Lan Y, Fan YJ, Gao FS, Wang TY, Xie D, Chen SQ, Yang WC, Hong JY, Wang L, Qiu SL, Cai ZM, Zhang XJ (2010) Genome wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nat Genet 42:759-763
32. Wu C, Hu Z, He Z, Jia W, Wang F, Zhou Y, Liu Z, Zhan Q, Liu Y, Yu D, Zhai K, Chang J, Qiao Y, Jin G, Liu Z, Shen Y, Guo C, Fu J, Miao X, Tan W, Shen H, Ke Y, Zeng Y, Wu T, Lin D (2011) Genome wide association study identifies three new susceptibility loci for esophageal squamous cell carcinoma in Chinese populations. Nat Genet 43:679-684. doi: 10.1038/ng.849
33. Wu M, Chang SC, Kampman E, Yang J, Wang XS, Gu XP, Han RQ, Liu AM, Wallar G, Zhou JY, Kok FJ, Zhao JK, Zhang ZF (2012) Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: A population-based case-control study in China. Int J Cancer. doi: 10.1002/ijc.27803 (in press)
34. Xue Y, Wang M, Zhong D, Tong N, Chu H, Sheng X, Zhang Z (2012) ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies. PLoS ONE 7:e37227
35. Yang CX, Matsuo K, Ito H, Hirose K, Wakai K, Saito T, Shinoda M, Hatooka S, Mizutani K, Tajima K (2005) Esophageal cancer risk by ALDH2 and ADH2 polymorphisms and alcohol consumption: exploration of gene-environment and gene-gene interactions. Asian Pac J Cancer Prev 6:256-262
36. Yokoyama A, Muramatsu T, Ohmori T, Higuchi S, Hayashida M, Ishii H (1996) Esophageal cancer and aldehyde dehydrogenase-2genotypes in Japanese males. Cancer Epidemiol Biomarkers Prev 5:99-102
37. Yoshida A, Huang IY, Ikawa M (1984) Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals. Proc Natl Acad Sci USA 81:258-261
38. Zhang GH, Mai RQ, Huang B (2010) Meta-analysis of ADH1B and ALDH2 polymorphisms and esophageal cancer risk in China. World J Gastroenterol 16:6020-6025